Canonical Allele Identifier: CA10585772
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252218
dbSNP Id: rs879255138

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120478del , CM000681.2:g.11120478del GRCh38
NC_000019.9:g.11231154del , CM000681.1:g.11231154del GRCh37
NC_000019.8:g.11092154del NCBI36
NG_009060.1:g.36098del , LRG_274:g.36098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2354del ENSP00000252444.6:p.Pro785ArgfsTer10
ENST00000559340.2:c.*165del ENSP00000453696.2:n.*165del
ENST00000560467.2:c.1976del ENSP00000453513.2:p.Pro659ArgfsTer10
ENST00000558518.6:c.2096del MANE Select ENSP00000454071.1:p.Pro699ArgfsTer10
ENST00000252444.9:c.2350del
ENST00000455727.6:c.1592del ENSP00000397829.2:p.Pro531ArgfsTer10
ENST00000535915.5:c.1973del ENSP00000440520.1:p.Pro658ArgfsTer10
ENST00000545707.5:c.1606+245del ENSP00000437639.1:n.1606+245del
ENST00000557933.5:c.2096del ENSP00000453557.1:p.Pro699ArgfsTer10
ENST00000558013.5:c.2096del ENSP00000453346.1:p.Pro699ArgfsTer10
ENST00000558518.5:c.2096del ENSP00000454071.1:p.Pro699ArgfsTer10
NM_000527.4:c.2096del , LRG_274t1:c.2096del NP_000518.1:p.Pro699ArgfsTer10
NM_001195798.1:c.2096del NP_001182727.1:p.Pro699ArgfsTer10
NM_001195799.1:c.1973del NP_001182728.1:p.Pro658ArgfsTer10
NM_001195800.1:c.1592del NP_001182729.1:p.Pro531ArgfsTer10
NM_001195803.1:c.1606+245del NP_001182732.1:n.1606+245del
XM_011528010.1:c.2096del XP_011526312.1:p.Pro699ArgfsTer10
XM_011528011.1:c.1715del XP_011526313.1:p.Pro572ArgfsTer10
XR_244074.2:n.2106del
XM_011528010.2:c.2096del XP_011526312.1:p.Pro699ArgfsTer10
XR_001753685.2:n.2213del
XR_001753686.2:n.2073del
NM_000527.5:c.2096del MANE Select NP_000518.1:p.Pro699ArgfsTer10
NM_001195798.2:c.2096del NP_001182727.1:p.Pro699ArgfsTer10
NM_001195799.2:c.1973del NP_001182728.1:p.Pro658ArgfsTer10
NM_001195800.2:c.1592del NP_001182729.1:p.Pro531ArgfsTer10
NM_001195803.2:c.1606+245del NP_001182732.1:n.1606+245del